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Blood lysosphingolipids accumulation in patients with parkinson's disease with glucocerebrosidase 1 mutations.

著者 Pchelina S , Baydakova G , Nikolaev M , Senkevich K , Emelyanov A , Kopytova A , Miliukhina I , Yakimovskii A , Timofeeva A , Berkovich O , Fedotova E , Illarioshkin S , Zakharova E
Mov Disord.2018 Sep 07 ; ():.
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Glucocerebrosidase 1 mutations, the most common genetic contributor to Parkinson's disease (PD), have been associated with decreased glucocerebrosidase enzymatic activity in PD patients with glucocerebrosidase 1 mutations (glucocerebrosidase 1-PD). However, it is unknown whether this decrease in enzymatic activity leads to lysosphingolipid accumulations.
PMID: 30192031 [PubMed - as supplied by publisher]
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